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191.
Anne Clancy Claire Heride Adn Pinto-Fernndez Hannah Elcocks Andreas Kallinos Katherine J. Kayser-Bricker Weiping Wang Victoria Smith Simon Davis Shawn Fessler Crystal McKinnon Marie Katz Tim Hammonds Neil P. Jones Jonathan O'Connell Bruce Follows Steven Mischke Justin A. Caravella Stephanos Ioannidis Christopher Dinsmore Sunkyu Kim Axel Behrens David Komander Benedikt M. Kessler Sylvie Urb Michael J. Clague 《The Journal of cell biology》2021,220(3)
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Fugier C Klein AF Hammer C Vassilopoulos S Ivarsson Y Toussaint A Tosch V Vignaud A Ferry A Messaddeq N Kokunai Y Tsuburaya R de la Grange P Dembele D Francois V Precigout G Boulade-Ladame C Hummel MC Lopez de Munain A Sergeant N Laquerrière A Thibault C Deryckere F Auboeuf D Garcia L Zimmermann P Udd B Schoser B Takahashi MP Nishino I Bassez G Laporte J Furling D Charlet-Berguerand N 《Nature medicine》2011,17(6):720-725
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) and myotonic dystrophy of type 1 (DM1) or of type 2 (DM2) are caused by the expression of mutant RNAs containing expanded CUG or CCUG repeats, respectively. These mutant RNAs sequester the splicing regulator Muscleblind-like-1 (MBNL1), resulting in specific misregulation of the alternative splicing of other pre-mRNAs. We found that alternative splicing of the bridging integrator-1 (BIN1) pre-mRNA is altered in skeletal muscle samples of people with CDM1, DM1 and DM2. BIN1 is involved in tubular invaginations of membranes and is required for the biogenesis of muscle T tubules, which are specialized skeletal muscle membrane structures essential for excitation-contraction coupling. Mutations in the BIN1 gene cause centronuclear myopathy, which shares some histopathological features with myotonic dystrophy. We found that MBNL1 binds the BIN1 pre-mRNA and regulates its alternative splicing. BIN1 missplicing results in expression of an inactive form of BIN1 lacking phosphatidylinositol 5-phosphate-binding and membrane-tubulating activities. Consistent with a defect of BIN1, muscle T tubules are altered in people with myotonic dystrophy, and membrane structures are restored upon expression of the normal splicing form of BIN1 in muscle cells of such individuals. Finally, reproducing BIN1 splicing alteration in mice is sufficient to promote T tubule alterations and muscle weakness, a predominant feature of myotonic dystrophy. 相似文献
194.
Astrocyte-like cells, which act as stem cells in the adult brain, reside in a few restricted stem cell niches. However, following brain injury, glia outside these niches acquire or reactivate stem cell potential as part of reactive gliosis. Recent studies have begun to uncover the molecular pathways involved in this process. A comparison of molecular pathways activated after injury with those involved in the normal neural stem cell niches highlights strategies that could overcome the inhibition of neurogenesis outside the stem cell niche and instruct parenchymal glia towards a neurogenic fate. This new view on reactive glia therefore suggests a widespread endogenous source of cells with stem cell potential, which might potentially be harnessed for local repair strategies. 相似文献
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Yang M Chowdhury R Ge W Hamed RB McDonough MA Claridge TD Kessler BM Cockman ME Ratcliffe PJ Schofield CJ 《The FEBS journal》2011,278(7):1086-1097
198.
Curry BA Blizzard CL Schmidt MD Walters EH Dwyer T Venn AJ 《Obesity (Silver Spring, Md.)》2011,19(10):2069-2075
Childhood BMI has been reported to be positively associated with adult lung function. The aim of this study was to investigate the effect of childhood BMI on young adult lung function independently of the effects of lean body mass (LBM). Clinical and questionnaire data were collected from 654 young Australian adults (aged 27-36 years), first studied when age 9, 12, or 15 years. Adult lung function was measured by forced vital capacity (FVC), forced expiratory volume in 1 s (FEV(1)), FEV(1)/FVC ratio, and the forced expiratory flow in the middle 50% of FVC (FEF(25-75)). BMI and LBM were derived from anthropometric measures at baseline (1985) and at follow-up (2004-2006). Multivariable models were used to investigate the effect of age and sex standardized BMI in childhood on adult lung function, before and after adjustment for LBM. Adult adiposity had a strong deleterious effect on lung function, irrespective of childhood BMI, and adjustment for childhood LBM eliminated any apparent beneficial effect of childhood BMI on adult FEV(1) or FVC. This suggests that the beneficial effect of increased BMI in childhood on adult FEV(1) and FVC observed in previous longitudinal studies is likely to be attributable to greater childhood LBM not adiposity. Obese children who become obese adults can expect to have poorer lung function than those who maintain healthy weight but large deficits in lung function are also likely for healthy weight children who become obese adults. This highlights the importance of lifetime healthy weight maintenance. 相似文献
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Robert Meadows Sara Arber Susan Venn Jenny Hislop Neil Stanley 《Chronobiology international》2013,30(1):80-92
Within western societies, it is commonplace for couples to share a bed. Yet there has been remarkably little research carried out on couples' sleep. This paper draws upon actigraphy, audio diary, and questionnaire data from both partners of 36 heterosexual couples (age 20–59 yrs) and aims to quantify the extent to which it is important to take into account the dyadic nature of sleep‐wake cycles. It achieves this through two interrelated aims: to use hierarchical linear models to measure dyadic interdependence in actigraphically recorded variables, and to investigate how much of this dyadic interdependence truly results from couple dynamics. The variables with the most significant couple interdependency were actual bed time, sleep latency, light/dark ratio, and wake bouts. The paper concludes by suggesting that interdependence may be the defining feature of couples' sleep, and that we need to employ analytic approaches that both acknowledge this and are sensitive to the possibilities that not all aspects of sleep will behave in the same way. 相似文献